Revel Score:
ENST00000340356 (MANE Select)
0.951
gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.64049207C>G , CM000682.2:g.64049207C>G | GRCh38 |
| NC_000020.10:g.62680560C>G , CM000682.1:g.62680560C>G | GRCh37 |
| NC_000020.9:g.62151004C>G | NCBI36 |
| NG_008095.1:g.5420G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340356.9:c.310G>C (SOX18) MANE Select | ENSP00000341815.7:p.Ala104Pro | |
| ENST00000340356.8:c.310G>C (SOX18) | ENSP00000341815.7:p.Ala104Pro | |
| NM_018419.2:c.310G>C (SOX18) | NP_060889.1:p.Ala104Pro | |
| XM_011529022.1:c.-2320+6812C>G (TCEA2) | XP_011527324.1:n.-2320+6812C>G | |
| XM_011529025.1:c.-2236+6812C>G (TCEA2) | XP_011527327.1:n.-2236+6812C>G | |
| XM_024451978.1:c.-2236+6812C>G (TCEA2) | XP_024307746.1:n.-2236+6812C>G | |
| NM_018419.3:c.310G>C (SOX18) MANE Select | NP_060889.1:p.Ala104Pro |